Multi-organ autoimmune diabetes
Gene: PTF1AEnsemblGeneIds (GRCh38): ENSG00000168267
EnsemblGeneIds (GRCh37): ENSG00000168267
OMIM: 607194, Gene2Phenotype
PTF1A is in 12 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:06 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Permanent neonatal diabetes mellitus (PNDM)
- Neonatal Diabetes
- Tags
- OMIM
- 607194
- Clinvar variants
- Variants in PTF1A
- Penetrance
- Complete
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Cerebellar hypoplasia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: PTF1A.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PTF1A was added to Multi-organ autoimmune diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)PTF1A was added to Multi-organ autoimmune diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN